Sorath Noorani Siddiqui

Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements

Feng Wang, Hui Wang, Han-Fang Tuan et al. · Human Genetics · 2013 · 235 citations

Molecular Diagnostic Techniques, Retinitis Pigmentosa, Genetics +10

Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing

Xia Wang, Hui Wang, Vincent Sun et al. · Journal of Medical Genetics · 2013 · 160 citations · Full text

The Global Retinoblastoma Outcome Study: a prospective, cluster-based analysis of 4064 patients from 149 countries

Ido Didi Fabian, Abdallah Elhassan, Shehu U. Abdullahi et al. · The Lancet Global Health · 2022 · 135 citations · Full text

Comprehensive analysis of patients with Stargardt macular dystrophy reveals new genotype–phenotype correlations and unexpected diagnostic revisions

Jacques Zaneveld, Sorath Noorani Siddiqui, Huajin Li et al. · Genetics in Medicine · 2014 · 47 citations · Full text

Ocular Disease, Ophthalmology, Genetics +7

Homozygosity Mapping and Targeted Sanger Sequencing Reveal Genetic Defects Underlying Inherited Retinal Disease in Families from Pakistan

Maleeha Maria, Muhammad Ajmal, Maleeha Azam et al. · PLoS ONE · 2015 · 34 citations · Full text